Introduction Respiratory infections like influenza and pneumococcus increase mortality, morbidity, hospitalisation risks and healthcare costs in people with type 2 diabetes which can be prevented by vaccinations. However, there is not much data regarding how many people with type 2 diabetes in India receive pneumococcal and influenza vaccinations. Methods This is a cross-sectional study conducted between March 2022 to May 2022 at a tertiary care centre in South India. Patients were interviewed through face to face questionnaire regarding awareness, knowledge of influenza and pneumococcal infections, availability and need of vaccines, vaccination status and the possible reasons for not receiving vaccines. Results A total of 388 patients were recruited in the study. Knowledge about influenza and pneumococcal infections were present only in 4.8% and 4.1% respectively. And 98.7% of patients had no awareness about the availability and need for vaccines. Only 0.5% and 0.7% of patients received influenza and pneumococcal vaccinations respectively. After counselling and spreading awareness, 76.2% of patients said that they would receive vaccination in the next visit. Also, 23.19% of the patients refused to take any vaccinations even after counselling. And 23.7% of patients feared complications after vaccinations. Conclusion Pneumococcal and Influenza vaccination uptake rates are extremely low in people with type 2 diabetes in India. Urgent measures are required to increase the awareness in patients and healthcare workers about the availability, need for vaccinations and effectiveness of vaccines which would lead to improvement in vaccination rates.

Introduction: Dyggve-Melchior-Clausen syndrome (DMC) is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. It involves mutation of Dymeclin (DYM) gene on chromosome 18q12.1 that encodes for DYM protein which is expressed in cartilage, bone, and brain. Case Discussion: Child aged 9 years with complains of failure to gain height-since infancy with intellectual disability. Child developed generalized joint pains since-4 years. Born as the first child to a second-degree consanguineous marriage. Oligohydramnios was diagnosed in second trimester and was delivered at 34 weeks by LSCS due to PPROM. Birth weight was 2 kg and APGAR was 9. Developmental milestones were delayed. Child has impaired speech and behavioral abnormalities like aggressive behavior, self harming tendencies, hyperactivity, poor attention span and temper tantrums. Younger sibling expired at the age of 3 months due to recurrent vomiting and seizures. Anthropometry showed height of117 cm (Ht SDS -2.09) and weight of 24 kg (25-50 percentile). US/LSratio-1.02, Arm span-119.5 cm, Head circumference-48.8 cm (-2SDS), Mid-parental height unable to assess as father is abroad. There was short forehead, flat occiput, large ears, poor dental hygiene, deformities of hands, widened wrists, short broad fingers, knock knees and widened ankle joint. Spinal examination showed kyphosis in upper back, exaggerated lordosis in lower back. Gait was of waddling nature. Laboratory evaluation showed hemogram was within normal limits. Calcium-9.9 mg/dl. Phosphorus-4.9 mg/dl, Alkaline phosphatase-299 IU. Creatinine-0.34 mg/dl.TT3-1.70 ng/ml, TT4-4.7 m/dl, TSH-1.56 mIU/ml. VIT D—29.12 ng/ml, S.PTH—38.2 pg/ml. C spine Xray suggestive of atlantoaxial dislocation. Thoraco-lumbo-sacral spine showed decreased vertebral body height, central notching and beaking of superior and inferior end plates. Hand x ray showed small metacarpals and enlarged epiphysis of distal radius and ulna. Pelvic Xray showed bilateral small iliac wing, lacy appearance of iliac crests, multiple small translucent areas in pelvic rami, symmetric enlargement of femoral heads on lateral aspect and displaced laterally. Leg Xray showed enlarged medial epiphysis of distal femur, tibia and irregularities of metaphyses. Karyotyping-46XY. Genetic analyses revealed homozygous mutation of DYM gene on exon7 of chromosome 18–autosomal recessive suggestive of DYGGVE MELCHIOR CLAUSEN DISEASE. Mother had a pericentric inversion of chromosome 9. Conclusion: This is a rare case of Dyggve Melchior-Clausen syndrome with typical features of skeletal dysplasias and intellectual disability. Patient is being planned for atlanto-axial stabilisation surgery. Genetic counselling given to parents.

Introduction: Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone manifesting with hypocalcemia, hyperphosphatemia, and increased serum concentration of PTH. Albright’s hereditary osteodystrophy is unusual constellation of developmental and skeletal defects that include short stature, rounded face, shortened fourth metacarpals and other bones of the hands and feet, obesity, dental hypoplasia, soft-tissue calcifications/ossifications associated with pseudohypoparathyroidism. Case Report: We report a twelve year five months old female presented with complaints of seizures, carpopedal spasms with positive Chvostek’s and Trousseau’s sign. On biochemical evaluation the cause for the seizures was discerned to be due to hypocalcaemia. She was treated with calcium supplements and referred to us for further evaluation. She was a product of non-consanguineous marriage with normal birth and developmental history except for childhood obesity. She has two healthy siblings. On physical examination height was 135 cm (Ht SDS -2.3) weight was 35 kg (between 10th-25th centile). She had a round face, crowded dentition, bilateral broad thumb, and brachymetatarsia of 4th, 5th toes. SMR showed B2, A-, P1. X ray of limbs revealed bilateral short 4th, 5th metacarpals and metatarsals, broad and short 1st metatarsals. Bone age was between 12 to 13 years. Her baseline endocrine and biochemical values showed in the table below. She was treated with calcium supplements and calcitriol. On follow up, serum calcium levels and urinary calcium/creatinine were monitored to achieve good calcemic levels. Genetic analysis (Whole exam sequencing) showed heterozygous GNAS mutation in Exon 8 suggestive of Pseudohypoparathyroidism 1a. We also evaluated the parents biochemical and hormonal profile and found that they had normal thyroid function tests, normal FSH and LH levels, PTH, calcium, phosphate levels. Genetic analysis of parents found to be normal. Conclusion: This is a rare case presented with symptomatic hypocalcaemia, hyperphosphatemia with short fourth and fifth metatarsals, elevated PTH levels, hypothyroidism and radiological findings typical of AHO which is further confirmed by genetic analysis. This case thus presents as a rare case PHP 1a with AHO with multiple hormonal resistance with typical phenotypic expression.